Incidental Mutation 'R4634:Rabepk'
| ID |
349391 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rabepk
|
| Ensembl Gene |
ENSMUSG00000070953 |
| Gene Name |
Rab9 effector protein with kelch motifs |
| Synonyms |
8430412M01Rik, 9530020D24Rik |
| MMRRC Submission |
042009-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R4634 (G1)
|
| Quality Score |
221 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
34667568-34689924 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34670752 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 228
(M228T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113099
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028222]
[ENSMUST00000100171]
[ENSMUST00000113086]
[ENSMUST00000118108]
[ENSMUST00000140663]
[ENSMUST00000141099]
[ENSMUST00000145903]
|
| AlphaFold |
Q8VCH5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028222
|
| SMART Domains |
Protein: ENSMUSP00000028222
Gene: ENSMUSG00000026864
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:HSP70
|
31 |
637 |
8.2e-276 |
PFAM |
|
Pfam:MreB_Mbl
|
136 |
406 |
1.2e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047963
|
| SMART Domains |
Protein: ENSMUSP00000037746
Gene: ENSMUSG00000070953
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Kelch_2
|
5 |
51 |
6.7e-13 |
PFAM |
|
Pfam:Kelch_4
|
5 |
58 |
2e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100171
|
| SMART Domains |
Protein: ENSMUSP00000097747
Gene: ENSMUSG00000026864
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:HSP70
|
31 |
637 |
3.3e-278 |
PFAM |
|
Pfam:MreB_Mbl
|
136 |
406 |
1.2e-18 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113086
AA Change: M177T
PolyPhen 2
Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000108709
Gene: ENSMUSG00000070953
AA Change: M177T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Kelch_2
|
30 |
82 |
5e-15 |
PFAM |
|
Pfam:Kelch_4
|
30 |
86 |
6.7e-10 |
PFAM |
|
Pfam:Kelch_3
|
47 |
96 |
1e-12 |
PFAM |
|
Pfam:Kelch_4
|
87 |
140 |
4.6e-7 |
PFAM |
|
Pfam:Kelch_3
|
98 |
150 |
1.6e-9 |
PFAM |
|
Pfam:Kelch_5
|
138 |
174 |
6.2e-8 |
PFAM |
|
Pfam:Kelch_1
|
141 |
186 |
8.3e-7 |
PFAM |
|
Pfam:Kelch_4
|
141 |
190 |
2.3e-10 |
PFAM |
|
Pfam:Kelch_6
|
141 |
190 |
4.1e-10 |
PFAM |
|
Pfam:Kelch_3
|
151 |
200 |
3.5e-8 |
PFAM |
|
Pfam:Kelch_5
|
188 |
225 |
1.8e-7 |
PFAM |
|
Pfam:Kelch_1
|
191 |
233 |
2.8e-9 |
PFAM |
|
Pfam:Kelch_4
|
193 |
240 |
9.4e-9 |
PFAM |
|
Pfam:Kelch_3
|
201 |
250 |
6.7e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118108
AA Change: M228T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113099
Gene: ENSMUSG00000070953
AA Change: M228T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Kelch_2
|
30 |
82 |
2.8e-16 |
PFAM |
|
Pfam:Kelch_4
|
30 |
82 |
3.7e-6 |
PFAM |
|
Pfam:Kelch_3
|
99 |
147 |
8.2e-9 |
PFAM |
|
Pfam:Kelch_4
|
138 |
191 |
2.7e-6 |
PFAM |
|
Pfam:Kelch_3
|
149 |
201 |
7.9e-9 |
PFAM |
|
Pfam:Kelch_5
|
189 |
225 |
2.8e-7 |
PFAM |
|
Pfam:Kelch_1
|
192 |
237 |
5.2e-6 |
PFAM |
|
Pfam:Kelch_4
|
192 |
241 |
1.3e-9 |
PFAM |
|
Pfam:Kelch_6
|
192 |
241 |
2.4e-9 |
PFAM |
|
Pfam:Kelch_3
|
202 |
251 |
1.7e-7 |
PFAM |
|
Pfam:Kelch_5
|
239 |
276 |
8.1e-7 |
PFAM |
|
Pfam:Kelch_1
|
242 |
284 |
1.8e-8 |
PFAM |
|
Pfam:Kelch_4
|
244 |
291 |
5.5e-8 |
PFAM |
|
Pfam:Kelch_3
|
252 |
301 |
3.2e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140663
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141099
|
| SMART Domains |
Protein: ENSMUSP00000120887
Gene: ENSMUSG00000070953
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
54 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145903
AA Change: M236T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122360
Gene: ENSMUSG00000070953
AA Change: M236T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Kelch_2
|
38 |
90 |
1.5e-17 |
PFAM |
|
Pfam:Kelch_4
|
38 |
90 |
2.2e-7 |
PFAM |
|
Pfam:Kelch_1
|
55 |
87 |
4.5e-7 |
PFAM |
|
Pfam:Kelch_3
|
107 |
155 |
7e-10 |
PFAM |
|
Pfam:Kelch_4
|
146 |
199 |
4e-7 |
PFAM |
|
Pfam:Kelch_3
|
157 |
209 |
1.5e-10 |
PFAM |
|
Pfam:Kelch_5
|
197 |
231 |
1e-8 |
PFAM |
|
Pfam:Kelch_4
|
200 |
249 |
3.4e-9 |
PFAM |
|
Pfam:Kelch_5
|
247 |
284 |
5.1e-8 |
PFAM |
|
Pfam:Kelch_1
|
250 |
292 |
2.9e-9 |
PFAM |
|
Pfam:Kelch_6
|
250 |
301 |
1.2e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144113
|
| Meta Mutation Damage Score |
0.2565 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
A |
G |
15: 74,456,278 (GRCm39) |
|
probably benign |
Het |
| Atm |
T |
C |
9: 53,443,033 (GRCm39) |
T77A |
probably benign |
Het |
| Brd8 |
T |
C |
18: 34,741,537 (GRCm39) |
M311V |
possibly damaging |
Het |
| Cand2 |
T |
A |
6: 115,774,948 (GRCm39) |
I1052N |
probably damaging |
Het |
| Ccdc121 |
G |
A |
5: 31,645,435 (GRCm39) |
R396Q |
probably benign |
Het |
| Ceacam16 |
T |
A |
7: 19,592,531 (GRCm39) |
M126L |
probably benign |
Het |
| Chd3 |
TGCTGCCGCTGCCGC |
TGCTGCCGCTGCCGCTGCCGC |
11: 69,253,013 (GRCm39) |
|
probably benign |
Het |
| Cln8 |
C |
T |
8: 14,944,842 (GRCm39) |
T52I |
probably damaging |
Het |
| Cops2 |
C |
A |
2: 125,682,400 (GRCm39) |
D194Y |
probably damaging |
Het |
| Csf1 |
C |
T |
3: 107,656,483 (GRCm39) |
V71M |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,058,372 (GRCm39) |
F183S |
probably damaging |
Het |
| Ears2 |
T |
A |
7: 121,643,832 (GRCm39) |
K375N |
probably benign |
Het |
| Fbn1 |
C |
A |
2: 125,185,981 (GRCm39) |
G1596C |
probably damaging |
Het |
| Fscn2 |
A |
T |
11: 120,258,546 (GRCm39) |
D390V |
possibly damaging |
Het |
| Gm42669 |
A |
T |
5: 107,656,079 (GRCm39) |
I781F |
possibly damaging |
Het |
| Gprin1 |
G |
T |
13: 54,885,871 (GRCm39) |
P801Q |
probably damaging |
Het |
| Hira |
C |
A |
16: 18,765,150 (GRCm39) |
S609R |
probably damaging |
Het |
| Htt |
G |
T |
5: 35,033,292 (GRCm39) |
K1853N |
probably benign |
Het |
| Kif2c |
T |
C |
4: 117,035,437 (GRCm39) |
I4V |
probably benign |
Het |
| Marveld2 |
A |
G |
13: 100,748,447 (GRCm39) |
Y211H |
probably damaging |
Het |
| Myd88 |
G |
A |
9: 119,167,175 (GRCm39) |
|
probably null |
Het |
| Nup153 |
A |
T |
13: 46,840,706 (GRCm39) |
N967K |
possibly damaging |
Het |
| Or4a76 |
A |
C |
2: 89,460,516 (GRCm39) |
I242S |
possibly damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Rcn3 |
T |
A |
7: 44,738,092 (GRCm39) |
D92V |
probably damaging |
Het |
| Sec1 |
T |
A |
7: 45,328,297 (GRCm39) |
Y250F |
probably damaging |
Het |
| Slc39a4 |
T |
C |
15: 76,498,693 (GRCm39) |
T334A |
probably benign |
Het |
| Trip11 |
G |
T |
12: 101,803,875 (GRCm39) |
T1669K |
probably damaging |
Het |
| Ttbk2 |
A |
G |
2: 120,570,673 (GRCm39) |
L1091P |
probably damaging |
Het |
| Vmn1r231 |
A |
G |
17: 21,110,660 (GRCm39) |
V85A |
possibly damaging |
Het |
| Zfp280b |
T |
C |
10: 75,874,663 (GRCm39) |
C181R |
probably benign |
Het |
|
| Other mutations in Rabepk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0066:Rabepk
|
UTSW |
2 |
34,685,318 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0479:Rabepk
|
UTSW |
2 |
34,675,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2152:Rabepk
|
UTSW |
2 |
34,674,562 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2233:Rabepk
|
UTSW |
2 |
34,685,246 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2234:Rabepk
|
UTSW |
2 |
34,685,246 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4962:Rabepk
|
UTSW |
2 |
34,670,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7088:Rabepk
|
UTSW |
2 |
34,675,711 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7685:Rabepk
|
UTSW |
2 |
34,669,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7686:Rabepk
|
UTSW |
2 |
34,669,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7767:Rabepk
|
UTSW |
2 |
34,675,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7990:Rabepk
|
UTSW |
2 |
34,670,720 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8683:Rabepk
|
UTSW |
2 |
34,685,188 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8995:Rabepk
|
UTSW |
2 |
34,689,842 (GRCm39) |
start gained |
probably benign |
|
|
R9573:Rabepk
|
UTSW |
2 |
34,675,627 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAGAGGGCACAGTGTTTT -3'
(R):5'- AGCTTTAATCCCCAAGTTCAGC -3'
Sequencing Primer
(F):5'- TTTTAAAAGAAAGAAAAGTGAGCAGG -3'
(R):5'- GTTCAGCTTAAGACCAGCCTG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation